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1. (WO2019047577) MICROSATELLITE INSTABILITY SEQUENCING DATA ANALYSIS METHOD, APPARATUS AND COMPUTER-READABLE MEDIUM
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Pub. No.: WO/2019/047577 International Application No.: PCT/CN2018/090085
Publication Date: 14.03.2019 International Filing Date: 06.06.2018
IPC:
G06F 19/22 (2011.01) ,C12Q 1/68 (2018.01)
G PHYSICS
06
COMPUTING; CALCULATING; COUNTING
F
ELECTRIC DIGITAL DATA PROCESSING
19
Digital computing or data processing equipment or methods, specially adapted for specific applications
10
Bioinformatics, i.e. methods or systems for genetic or protein-related data processing in computational molecular biology
22
for sequence comparison involving nucleotides or amino acids, e.g. homology search, motif or SNP [Single-Nucleotide Polymorphism] discovery or sequence alignment
C CHEMISTRY; METALLURGY
12
BIOCHEMISTRY; BEER; SPIRITS; WINE; VINEGAR; MICROBIOLOGY; ENZYMOLOGY; MUTATION OR GENETIC ENGINEERING
Q
MEASURING OR TESTING PROCESSES INVOLVING ENZYMES OR MICRO-ORGANISMS; COMPOSITIONS OR TEST PAPERS THEREFOR; PROCESSES OF PREPARING SUCH COMPOSITIONS; CONDITION-RESPONSIVE CONTROL IN MICROBIOLOGICAL OR ENZYMOLOGICAL PROCESSES
1
Measuring or testing processes involving enzymes or micro-organisms; Compositions therefor; Processes of preparing such compositions
68
involving nucleic acids
Applicants:
南京世和基因生物技术有限公司 GENESEEQ TECHNOLOGY INC. [CN/CN]; 中国江苏省南京市 浦口区高新技术开发区新锦湖路3-1号中丹园B座18楼 Floor 18, Block B, Zhongdanyuan, No.3-1 Xinjinhu Road, High-Tech District, Pukou District Nanjing, Jiangsu 210032, CN
Inventors:
邵阳 SHAO, Yang; CN
朱明赴 ZHU, Mingfu; CN
常志力 CHANG, Zhili; CN
汪笑男 WANG, Xiaonan; CN
闫重光 YAN, Chongguang; CN
吴舒雨 WU, Shuyu; CN
包华 BAO, Hua; CN
童晓玲 TONG, Xiaoling; CN
Agent:
南京汇恒知识产权代理事务所(普通合伙) NANJING HUIHENG INTELLECTUAL PROPERTY AGENCY OFFICE (GENERAL PARTNERSHIP); 中国江苏省南京市 国家经济开发区兴智路兴智科技园C栋412室 Room 412, Building C, Xingzhi Road, Xingzhi Park, National Economic Development Zone Nanjing, Jiangsu 210049, CN
Priority Data:
201710795439.106.09.2017CN
Title (EN) MICROSATELLITE INSTABILITY SEQUENCING DATA ANALYSIS METHOD, APPARATUS AND COMPUTER-READABLE MEDIUM
(FR) PROCÉDÉ D'ANALYSE DE DONNÉES DE SÉQUENÇAGE D'INSTABILITÉ DE MICROSATELLITE, APPAREIL ET SUPPORT LISIBLE PAR ORDINATEUR
(ZH) 一种微卫星不稳定性的测序数据分析方法、装置及计算机可读介质
Abstract:
(EN) Provided are a microsatellite instability sequencing data analysis method, an apparatus and a computer-readable medium. The present invention can use an NGS sequencing result to determine whether microsatellite instability is present; the present analysis calculation method significantly increases detection sensitivity without decreasing specificity, and can evaluate stability or instability of each MSI site rapidly, automatically, with high throughput, high flexibility and high specificity, thereby combining states of all MSI sites in each sample, and evaluating a sample overall as MSS, MSI-L or MSI-H.
(FR) La présente invention concerne un procédé d'analyse de données de séquençage d'instabilité de microsatellite, un appareil et un support lisible par ordinateur. La présente invention peut utiliser un résultat de séquençage NGS pour déterminer si une instabilité de microsatellite est présente; le présent procédé de calcul d'analyse augmente de manière significative la sensibilité de détection sans diminuer la spécificité, et peut évaluer la stabilité ou l'instabilité de chaque site MSI, rapidement, automatiquement, avec un grand débit, une haute flexibilité et une haute spécificité, ce qui permet de combiner des états de tous les sites MSI dans chaque échantillon et d'évaluer en général un échantillon en tant que MSS, MSI-L ou MSI-H.
(ZH) 提供了一种微卫星不稳定性的测序数据分析方法、装置及计算机可读介质。能够利用NGS测序结果判定出是否存在微卫星不稳定的情况,该分析计算方法在不降低特异性的情况下能够明显提高检测敏感性,可以快速、自动化、高通量、高灵敏度、高特异性地评估每个MSI位点的稳定或不稳定状态,进而结合每个样本中所有MSI位点的状态,综合评估样本为MSS,MSI-L,或MSI-H。
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Designated States: AE, AG, AL, AM, AO, AT, AU, AZ, BA, BB, BG, BH, BN, BR, BW, BY, BZ, CA, CH, CL, CN, CO, CR, CU, CZ, DE, DJ, DK, DM, DO, DZ, EC, EE, EG, ES, FI, GB, GD, GE, GH, GM, GT, HN, HR, HU, ID, IL, IN, IR, IS, JO, JP, KE, KG, KH, KN, KP, KR, KW, KZ, LA, LC, LK, LR, LS, LU, LY, MA, MD, ME, MG, MK, MN, MW, MX, MY, MZ, NA, NG, NI, NO, NZ, OM, PA, PE, PG, PH, PL, PT, QA, RO, RS, RU, RW, SA, SC, SD, SE, SG, SK, SL, SM, ST, SV, SY, TH, TJ, TM, TN, TR, TT, TZ, UA, UG, US, UZ, VC, VN, ZA, ZM, ZW
African Regional Intellectual Property Organization (ARIPO) (BW, GH, GM, KE, LR, LS, MW, MZ, NA, RW, SD, SL, ST, SZ, TZ, UG, ZM, ZW)
Eurasian Patent Office (AM, AZ, BY, KG, KZ, RU, TJ, TM)
European Patent Office (EPO) (AL, AT, BE, BG, CH, CY, CZ, DE, DK, EE, ES, FI, FR, GB, GR, HR, HU, IE, IS, IT, LT, LU, LV, MC, MK, MT, NL, NO, PL, PT, RO, RS, SE, SI, SK, SM, TR)
African Intellectual Property Organization (BF, BJ, CF, CG, CI, CM, GA, GN, GQ, GW, KM, ML, MR, NE, SN, TD, TG)
Publication Language: Chinese (ZH)
Filing Language: Chinese (ZH)